ABCMdb

PMID: 22768130

Sloane PA, Shastry S, Wilhelm A, Courville C, Tang LP, Backer K, Levin E, Raju SV, Li Y, Mazur M, Byan-Parker S, Grizzle W, Sorscher EJ, Dransfield MT, Rowe SM
A pharmacologic approach to acquired cystic fibrosis transmembrane conductance regulator dysfunction in smoking related lung disease.
PLoS One. 2012;7(6):e39809. Epub 2012 Jun 29., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.Gly551Asp Potentiators of cystic fibrosis transmembrane conductance regulator (CFTR) activity pharmacologically enhance CFTR function; ivacaftor is one such agent approved to treat CF patients with the G551D-CFTR gating mutation. Login to comment 29 ABCC7 p.Gly551Asp The novel CFTR potentiator ivacaftor (KalydecoTM , VX-770) was recently approved for use in CF patients with the G551D-CFTR gating mutation based on marked improvements in multiple clinical endpoints in phase 2 and 3 trials [15,16]. Login to comment 105 ABCC7 p.Arg117His CFTR Genetics CFTR genetic testing (50 mutation analysis) was performed on all airway tissue samples and NPD participants at a commercially accredited facility (Baylor Medical Genetics, Houston, TX), and included the 23 mutations recommended by the American College of Medical Genetics (ACMG) and reflex testing of the 5T allele upon detection of the R117H mutation. Login to comment 106 ABCC7 p.Arg117His CFTR Genetics CFTR genetic testing (50 mutation analysis) was performed on all airway tissue samples and NPD participants at a commercially accredited facility (Baylor Medical Genetics, Houston, TX), and included the 23 mutations recommended by the American College of Medical Genetics (ACMG) and reflex testing of the 5T allele upon detection of the R117H mutation. Login to comment 159 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp Recently the potentiator ivacaftor was reported to significantly augment cAMP mediated ion transport activity of CFTR encoding the gating mutation, G551D-CFTR, in vitro [17] and in CF subjects harboring the G551D CFTR defect [16]. Login to comment 160 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp Ivacaftor improved measures of CFTR activity (including both chloride conductance monitored by NPD and sweat chloride [16]) and also produced a marked and sustained improvement in pulmonary function in CF patients with G551D-CFTR [15,16], establishing that mutant CFTR is a valid therapeutic target in CF. Login to comment 161 ABCC7 p.Gly551Asp Ivacaftor improved measures of CFTR activity (including both chloride conductance monitored by NPD and sweat chloride [16]) and also produced a marked and sustained improvement in pulmonary function in CF patients with G551D-CFTR [15,16], establishing that mutant CFTR is a valid therapeutic target in CF. Login to comment